Canonical Allele Identifier: CA379472171

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635891A>T (hg19) ; chr11:g.6614660A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614660A>T , CM000673.2:g.6614660A>T	GRCh38
NC_000011.9:g.6635891A>T , CM000673.1:g.6635891A>T	GRCh37
NC_000011.8:g.6592467A>T	NCBI36
NG_008653.1:g.9802T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1464T>A	ENSP00000507321.1:p.Cys488Ter
ENST00000299427.12:c.1578T>A MANE Select	ENSP00000299427.6:p.Cys526Ter
ENST00000524611.2:n.617T>A
ENST00000524924.2:n.698T>A
ENST00000533371.6:c.849T>A	ENSP00000437066.1:p.Cys283Ter
ENST00000642892.1:c.849T>A	ENSP00000494165.1:p.Cys283Ter
ENST00000643342.1:c.651T>A
ENST00000643439.1:c.*1318T>A	ENSP00000495849.1:n.*1318T>A
ENST00000643479.1:n.1764T>A
ENST00000643516.1:c.1087T>A
ENST00000644218.1:c.1389T>A	ENSP00000493574.1:p.Cys463Ter
ENST00000644683.1:c.*1031T>A	ENSP00000494085.1:n.*1031T>A
ENST00000644810.1:c.1299T>A	ENSP00000495895.1:p.Cys433Ter
ENST00000644831.1:n.1754T>A
ENST00000644933.1:c.*444T>A	ENSP00000496133.1:n.*444T>A
ENST00000645285.1:c.*444T>A	ENSP00000495058.1:n.*444T>A
ENST00000645331.1:n.2783T>A
ENST00000645620.1:c.849T>A	ENSP00000493657.1:p.Cys283Ter
ENST00000646691.1:n.1465T>A
ENST00000646777.1:n.1911T>A
ENST00000647016.1:n.2058T>A
ENST00000647152.1:c.849T>A	ENSP00000495893.1:p.Cys283Ter
ENST00000647209.1:c.*1447T>A	ENSP00000495558.1:n.*1447T>A
ENST00000647346.1:n.2598T>A
ENST00000299427.10:c.1578T>A	ENSP00000299427.6:p.Cys526Ter
ENST00000524611.1:n.456T>A
ENST00000533371.5:c.849T>A	ENSP00000437066.1:p.Cys283Ter
ENST00000611494.4:c.1578T>A	ENSP00000484546.1:p.Cys526Ter
NM_000391.3:c.1578T>A	NP_000382.3:p.Cys526Ter
NM_000391.4:c.1578T>A MANE Select	NP_000382.3:p.Cys526Ter